Summariesfor PHGDH gene

This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine

is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms

homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly,

psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found,

however the full-length nature of most are not known. (provided by RefSeq, Aug 2011)

GeneCards Summary for PHGDH Gene:

PHGDH (phosphoglycerate dehydrogenase) is a protein-coding gene. Diseases associated with PHGDH include phgdh deficiency, and neu-laxova syndrome1. GO annotations related to this gene include phosphoglycerate dehydrogenase activity and electron carrier activity. An important paralog of this gene is CTBP1.